Search Results - "Bosley, Thomas M"

Loss of MAFB Function in Humans and Mice Causes Duane Syndrome, Aberrant Extraocular Muscle Innervation, and Inner-Ear Defects by Park, Jong G., Tischfield, Max A., Nugent, Alicia A., Cheng, Long, Di Gioia, Silvio Alessandro, Chan, Wai-Man, Maconachie, Gail, Bosley, Thomas M., Summers, C. Gail, Hunter, David G., Robson, Caroline D., Gottlob, Irene, Engle, Elizabeth C.

“…Duane retraction syndrome (DRS) is a congenital eye-movement disorder defined by limited outward gaze and retraction of the eye on attempted inward gaze. Here,…”
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New findings in a global approach to dissect the whole phenotype of PLA2G6 gene mutations by Salih, Mustafa A, Mundwiller, Emeline, Khan, Arif O, AlDrees, Abdulmajeed, Elmalik, Salah A, Hassan, Hamdy H, Al-Owain, Mohammed, Alkhalidi, Hisham M S, Katona, Istvan, Kabiraj, Mohammad M, Chrast, Roman, Kentab, Amal Y, Alzaidan, Hamad, Rodenburg, Richard J, Bosley, Thomas M, Weis, Joachim, Koenig, Michel, Stevanin, Giovanni, Azzedine, Hamid

“…Mutations in PLA2G6 gene have variable phenotypic outcome including infantile neuroaxonal dystrophy, atypical neuroaxonal dystrophy, idiopathic…”
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Glaucoma and Globe Enlargement Associated with Neurofibromatosis Type 1 by Morales, Jose, MD, Chaudhry, Imtiaz A., MD, PhD, Bosley, Thomas M., MD

“…Objective To describe the features of glaucoma and globe enlargement sometimes associated with neurofibromatosis type 1 (NF1). Design Single institution,…”
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Eurasian and African mitochondrial DNA influences in the Saudi Arabian population by Abu-Amero, Khaled K, González, Ana M, Larruga, Jose M, Bosley, Thomas M, Cabrera, Vicente M

“…Genetic studies of the Arabian Peninsula are scarce even though the region was the center of ancient trade routes and empires and may have been the southern…”
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The clinical spectrum of homozygous HOXA1 mutations by Bosley, Thomas M., Alorainy, Ibrahim A., Salih, Mustafa A., Aldhalaan, Hesham M., Abu-Amero, Khaled K., Oystreck, Darren T., Tischfield, Max A., Engle, Elizabeth C., Erickson, Robert P.

“…We describe nine previously unreported individuals from six families who have homozygous mutations of HOXA1 and either the Bosley–Salih–Alorainy syndrome…”
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The genetics of nonsyndromic bilateral Duane retraction syndrome by Abu-Amero, Khaled K., PhD, Khan, Arif O., MD, Oystreck, Darren T., MMedSci, Kondkar, Altaf A., PhD, Bosley, Thomas M., MD

“…Purpose To assess the importance of monogenic mutations and chromosomal copy number variants (CNVs) in the occurrence of nonsyndromic bilateral Duane…”
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Coats-like retinopathy in Joubert syndrome by Abouammoh, Marwan A., MD, Al-Shibani, Salwa K., MD, Alhawwas, Abdulrahman, MD, Bosley, Thomas M., MD

“…An 11-year-old girl with Joubert syndrome was evaluated for a dim red reflex in her left eye. Fundus examination revealed retinal telangiectasias bilaterally…”
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Visual Loss in Orbitofacial Neurofibromatosis Type 1 by Oystreck, Darren T., MMedSci, OC(C), Morales, Jose, MD, Chaudhry, Imtiaz, MD, PhD, Alorainy, Ibrahim A., MD, Elkhamary, Sahar M., MD, Pasha, Taha M.U., MBBS, Bosley, Thomas M., MD

“…Purpose On occasion, neurofibromas in neurofibromatosis type 1 may be present on the lid, brow, or face of an infant or child, a circumstance commonly referred…”
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Mitochondrial Abnormalities in Patients with Primary Open-Angle Glaucoma by Abu-Amero, Khaled K, Morales, Jose, Bosley, Thomas M

“…Primary open-angle glaucoma (POAG) is the second most common cause of blindness. It has been linked to mutations in the myocilin (MYOC) and optineurin (OPTN)…”
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A de novo marker chromosome derived from 9p in a patient with 9p partial duplication syndrome and autism features: genotype-phenotype correlation by Abu-Amero, Khaled K, Hellani, Ali M, Salih, Mustafa A, Seidahmed, Mohammad Z, Elmalik, Tageldin S, Zidan, Ghassan, Bosley, Thomas M

“…Previous studies focusing on candidate genes and chromosomal regions identified several copy number variations (CNVs) associated with increased risk of autism…”
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Ocular motility abnormalities in orbitofacial neurofibromatosis type 1 by Oystreck, Darren T., MMedSci, Alorainy, Ibrahim A., MD, Morales, Jose, MD, Chaudhry, Imtiaz A., MD, PhD, FACS, Elkhamary, Sahar M., MD, Bosley, Thomas M., MD

“…Purpose To evaluate the causes of ocular motility disturbances in a group of patients with orbitofacial neurofibromatosis (OFNF) with neurofibromas on the lid,…”
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Bilateral Synergistic Convergence Associated with Homozygous ROB03 Mutation (p.Pro771Leu) by Khan, Arif O., MD, Oystreck, Darren T., OC(C), Al-Tassan, Nada, PhD, Al-Sharif, Latifa, Bsc, Bosley, Thomas M., MD

“…Objective To document the phenotype and determine the genotype of a child with synergistic convergence. Design Interventional case report. Participants Patient…”
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Optic Neuritis Associated With Tumor Necrosis Factor–Alpha Inhibitor Certolizumab by Chen, Ariel, Miller, Neil R., Bosley, Thomas M.

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Molecular and neurological characterizations of three Saudi families with lipoid proteinosis by Salih, Mustafa A, Abu-Amero, Khaled K, Alrasheed, Saleh, Alorainy, Ibrahim A, Liu, Lu, McGrath, John A, Van Maldergem, Lionel, Al-Faky, Yasser H, AlSuhaibani, Adel H, Oystreck, Darren T, Bosley, Thomas M

“…Lipoid proteinosis is a rare autosomal recessive disease characterized by cutaneous and mucosal lesions and hoarseness appearing in early childhood. It is…”
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Clinicopathological features of peripheral nerve sheath tumors involving the eye and ocular adnexa by Zhang, Mingjuan L., Suarez, Maria J., Bosley, Thomas M., Rodriguez, Fausto J.

“…Peripheral nerve sheath tumors (PNSTs) are known to occur in the orbit and comprise 4% of all orbital tumors, but have not been well studied in contemporary…”
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Mutation in GM2A Leads to a Progressive Chorea-dementia Syndrome by Salih, Mustafa A, Seidahmed, Mohammed Z, El Khashab, Heba Y, Hamad, Muddathir H A, Bosley, Thomas M, Burn, Sabrina, Myers, Angela, Landsverk, Megan L, Crotwell, Patricia L, Bilguvar, Kaya, Mane, Shrikant, Kruer, Michael C

“…BACKGROUNDThe etiology of many cases of childhood-onset chorea remains undetermined, although advances in genomics are revealing both new disease-associated…”
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Retinal Findings in Haemorrhagic Destruction of the Brain, Subependymal Calcification, and Congenital Cataracts (HDBSCC): Case Report and Review by Kozak, Igor, Ali, Syed M, Hoque, Nicholas, Lin, Doris, Bosley, Thomas M

“…We describe a child from a consanguineous family born with a rare autosomal recessive disorder affecting causing profound neurological and ophthalmological…”
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When straight eyes won't move: phenotypic overlap of genetically distinct ocular motility disturbances by Oystreck, Darren T., MMedSci, OC(C), Salih, Mustafa A., MD, DrMedSci, Bosley, Thomas M., MD

“…Abstract Objective To describe the phenotypic similarity in a series of patients with genetically distinct ocular motility disturbances involving straight eyes…”
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Congenital cranial dysinnervation disorders: a concept in evolution by Bosley, Thomas M, Abu-Amero, Khaled K, Oystreck, Darren T

“…PURPOSE OF REVIEWWe review the congenital and genetic diagnoses that are currently included in the congenital cranial dysinnervation disorders (CCDDs). RECENT…”
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Biallelic mutations in human DCC cause developmental split-brain syndrome by Jamuar, Saumya S, Schmitz-Abe, Klaus, D'Gama, Alissa M, Drottar, Marie, Chan, Wai-Man, Peeva, Maya, Servattalab, Sarah, Lam, Anh-Thu N, Delgado, Mauricio R, Clegg, Nancy J, Zayed, Zayed Al, Dogar, Mohammad Asif, Alorainy, Ibrahim A, Jamea, Abdullah Abu, Abu-Amero, Khaled, Griebel, May, Ward, Wendy, Lein, Ed S, Markianos, Kyriacos, Barkovich, A James, Robson, Caroline D, Grant, P Ellen, Bosley, Thomas M, Engle, Elizabeth C, Walsh, Christopher A, Yu, Timothy W

“…Timothy Yu and colleagues report that biallelic mutations in DCC cause a developmental syndrome characterized by widespread disruption of midline-bridging…”
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